A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6408999



Internal ID21066552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80817901..80830400hg38UCSC Ensembl
chr5:80113720..80126219hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3812500
hg1912500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214219
Samples
Known GenesMSH3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6408999
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer